A Japanese Case of Ichthyosiform Erythroderma with a Novel Mutation in NIPAL4/Ichthyin

Acta Derm Venereol. 2017 Mar 10;97(3):397-398. doi: 10.2340/00015555-2550.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biopsy
  • DNA Mutational Analysis
  • Female
  • Fluorescent Antibody Technique
  • Genetic Predisposition to Disease
  • Glucosylceramides / metabolism
  • Homozygote
  • Humans
  • Ichthyosiform Erythroderma, Congenital / diagnosis
  • Ichthyosiform Erythroderma, Congenital / drug therapy
  • Ichthyosiform Erythroderma, Congenital / genetics*
  • Ichthyosiform Erythroderma, Congenital / metabolism
  • Japan
  • Lipid Droplets / metabolism
  • Mutation*
  • Phenotype
  • Receptors, Cell Surface / genetics*
  • Skin / metabolism
  • Skin / ultrastructure

Substances

  • Glucosylceramides
  • NIPAL4 protein, human
  • Receptors, Cell Surface